Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008] See more...

Aliases for SQLE Gene

Aliases for SQLE Gene

  • Squalene Epoxidase 2 3 4 5
  • Squalene Monooxygenase 2 3 4
  • SE 3 4
  • EC 1.14.14.17 4
  • SQLE 5
  • ERG1 4

External Ids for SQLE Gene

Previous GeneCards Identifiers for SQLE Gene

  • GC08P125035
  • GC08P126015
  • GC08P125679
  • GC08P125968
  • GC08P126079
  • GC08P121334
  • GC08P126010

Summaries for SQLE Gene

Entrez Gene Summary for SQLE Gene

  • Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008]

GeneCards Summary for SQLE Gene

SQLE (Squalene Epoxidase) is a Protein Coding gene. Diseases associated with SQLE include Tinea Corporis and Tinea Cruris. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and squalene monooxygenase activity.

UniProtKB/Swiss-Prot Summary for SQLE Gene

  • Catalyzes the stereospecific oxidation of squalene to (S)-2,3-epoxysqualene, and is considered to be a rate-limiting enzyme in steroid biosynthesis.

Gene Wiki entry for SQLE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SQLE Gene

Genomics for SQLE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SQLE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SQLE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SQLE

Top Transcription factor binding sites by QIAGEN in the SQLE gene promoter:
  • AML1a
  • Arnt
  • CBF(2)
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • NF-Y
  • NRSF form 2
  • RORalpha2

Genomic Locations for SQLE Gene

Genomic Locations for SQLE Gene
chr8:124,998,497-125,022,283
(GRCh38/hg38)
Size:
23,787 bases
Orientation:
Plus strand
chr8:126,010,720-126,034,525
(GRCh37/hg19)
Size:
23,806 bases
Orientation:
Plus strand

Genomic View for SQLE Gene

Genes around SQLE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SQLE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SQLE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SQLE Gene

Proteins for SQLE Gene

  • Protein details for SQLE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14534-ERG1_HUMAN
    Recommended name:
    Squalene monooxygenase
    Protein Accession:
    Q14534
    Secondary Accessions:
    • Q9UEK6
    • Q9UNR6

    Protein attributes for SQLE Gene

    Size:
    574 amino acids
    Molecular mass:
    63923 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Interacts (via N-terminal domain) with MARCHF6. Interacts with SMIM22; this interaction modulates lipid droplet formation (PubMed:29765154).

    Three dimensional structures from OCA and Proteopedia for SQLE Gene

neXtProt entry for SQLE Gene

Post-translational modifications for SQLE Gene

  • Ubiquitinated by MARCHF6 in response to high cholesterol levels in intracellular membranes, leading to proteasomal degradation.
  • Ubiquitination at Lys90, Lys290, Lys426, and Lys436
  • Modification sites at PhosphoSitePlus

Other Protein References for SQLE Gene

Antibody Products

  • Boster Bio Antibodies for SQLE

No data available for DME Specific Peptides for SQLE Gene

Domains & Families for SQLE Gene

Gene Families for SQLE Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SQLE Gene

InterPro:
Blocks:
  • Squalene epoxidase
ProtoNet:

Suggested Antigen Peptide Sequences for SQLE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51555, highly similar to Squalene monooxygenase (EC 1.14.99.7) (B4DHX0_HUMAN)
  • Squalene epoxidase (ERG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14534

UniProtKB/Swiss-Prot:

ERG1_HUMAN :
  • The C-terminal hydrophobic region contains two helices that mediate interaction with membranes. Contrary to predictions, this region does not contain transmembrane helices.
  • Belongs to the squalene monooxygenase family.
Domain:
  • The C-terminal hydrophobic region contains two helices that mediate interaction with membranes. Contrary to predictions, this region does not contain transmembrane helices.
  • The N-terminal region mediates interaction with MARCHF6, leading to SQLE ubiquitination and proteasomal degradation when cholosterol levels are high (PubMed:24449766, PubMed:26434806, PubMed:28972164). The first part of the N-terminal region contains a hydrophobic region that inserts into the membrane; contrary to predictions, there are no transmembrane helices (PubMed:26434806). The second part contains a region that can form an amphipathic region that associates with membranes. This region is ejected from the membrane by high cholesterol levels and becomes disordered in an aqueous environment. This is critical for cholesterol-dependent proteasomal degradation. Additional parts of the N-terminal region are predicted to be disordered and contribute to flagging the protein for proteasomal degradation already under basal conditions (PubMed:28972164).
Family:
  • Belongs to the squalene monooxygenase family.
genes like me logo Genes that share domains with SQLE: view

Function for SQLE Gene

Molecular function for SQLE Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the stereospecific oxidation of squalene to (S)-2,3-epoxysqualene, and is considered to be a rate-limiting enzyme in steroid biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + reduced [NADPH--hemoprotein reductase] + squalene = (S)-2,3-epoxysqualene + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:25282, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15440, ChEBI:CHEBI:15441, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.17; Evidence={ECO:0000269|PubMed:10666321, ECO:0000269|PubMed:30626872};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.9 uM for squalene {ECO:0000269|PubMed:30626872}; KM=9.6 uM for FAD {ECO:0000269|PubMed:30626872};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by NB-598 ((E)N-ethyl-N-(6,6-dimethyl-2-hepten-4-ynyl)-3-[(3,3'-bi-thiophen-5-yl)methoxy]benzene-methanamine). Contrary to fungal enzymes, the mammalian enzyme is only slightly inhibited by terbinafine (PubMed:30626872). Inhibited by tellurite, tellurium dioxide, selenite, and selenium dioxide (PubMed:10666321).
GENATLAS Biochemistry:
squalene epoxidase catalyzing the first oxygenation step in sterol biosynthesis

Enzyme Numbers (IUBMB) for SQLE Gene

Phenotypes From GWAS Catalog for SQLE Gene

Gene Ontology (GO) - Molecular Function for SQLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004506 squalene monooxygenase activity IEA,NAS 9286711
GO:0005515 protein binding IPI 29765154
GO:0016491 oxidoreductase activity IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
GO:0071949 FAD binding IEA,IDA 30626872
genes like me logo Genes that share ontologies with SQLE: view
genes like me logo Genes that share phenotypes with SQLE: view

Animal Models for SQLE Gene

MGI Knock Outs for SQLE:
  • Sqle Sqle<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for SQLE Gene

miRTarBase miRNAs that target SQLE

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SQLE

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SQLE Gene

Localization for SQLE Gene

Subcellular locations from UniProtKB/Swiss-Prot for SQLE Gene

Microsome membrane. Peripheral membrane protein. Endoplasmic reticulum membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SQLE gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
cytoskeleton 3
cytosol 3
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
golgi apparatus 2
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SQLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 30626872
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with SQLE: view

Pathways & Interactions for SQLE Gene

genes like me logo Genes that share pathways with SQLE: view

UniProtKB/Swiss-Prot Q14534-ERG1_HUMAN

  • Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 2/3.

Gene Ontology (GO) - Biological Process for SQLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process TAS --
GO:0006725 cellular aromatic compound metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA,IBA 21873635
GO:0010033 response to organic substance IEA --
GO:0016126 sterol biosynthetic process IEA,NAS 9286711
genes like me logo Genes that share ontologies with SQLE: view

No data available for SIGNOR curated interactions for SQLE Gene

Drugs & Compounds for SQLE Gene

(27) Drugs for SQLE Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Butenafine Approved Pharma Target, inhibitor 4
Naftifine Approved Pharma Target, inhibitor 13
Terbinafine Approved, Investigational, Vet_approved Pharma Target, inhibitor 39
FAD Approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0

(12) Additional Compounds for SQLE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3S)-2,3-epoxy-2,3-dihydrosqualene
  • (S)-Squalene-2,3-epoxide
  • Squalene 2,3-epoxide
  • Squalene 2,3-oxide
Ferrocytochrome
  • 553-12-8 (FREE acid)
  • Ferrocytochrome b-561
  • H2PpIX
  • HEM
  • Kammerer'S porphyrin
1818-68-4
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton

(6) ApexBio Compounds for SQLE Gene

Compound Action Cas Number
Liranaftate 88678-31-3
NB-598 SE inhibitor 131060-14-5
NB-598 hydrochloride SE inhibitor 136719-25-0
NB-598 Maleate Squalene epoxidase inhibitor 155294-62-5
NB-598 Maleate salt SE inhibitor 136719-26-1
Terbinafine HCl 78628-80-5
genes like me logo Genes that share compounds with SQLE: view

Drug Products

Transcripts for SQLE Gene

mRNA/cDNA for SQLE Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SQLE

Alternative Splicing Database (ASD) splice patterns (SP) for SQLE Gene

No ASD Table

Relevant External Links for SQLE Gene

GeneLoc Exon Structure for
SQLE

Expression for SQLE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SQLE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SQLE Gene

This gene is overexpressed in Esophagus - Mucosa (x4.1).

Protein differential expression in normal tissues from HIPED for SQLE Gene

This gene is overexpressed in Fetal testis (35.4) and Fetal ovary (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SQLE Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SQLE

SOURCE GeneReport for Unigene cluster for SQLE Gene:

Hs.71465

mRNA Expression by UniProt/SwissProt for SQLE Gene:

Q14534-ERG1_HUMAN
Tissue specificity: Detected in liver (at protein level).

Evidence on tissue expression from TISSUES for SQLE Gene

  • Liver(4.6)
  • Nervous system(4.5)
  • Intestine(4.5)
  • Skin(2.7)
  • Blood(2.4)
  • Lung(2.1)
  • Kidney(2.1)
  • Adrenal gland(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SQLE: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SQLE Gene

Orthologs for SQLE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SQLE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SQLE 30 31
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SQLE 30 31
  • 89.04 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SQLE 30 31
  • 88.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sqle 30
  • 83.01 (n)
Mouse
(Mus musculus)
Mammalia Sqle 30 17 31
  • 82.98 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SQLE 31
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SQLE 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SQLE 30 31
  • 73.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SQLE 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sqle 30
  • 67.21 (n)
Zebrafish
(Danio rerio)
Actinopterygii sqlea 30 31
  • 65.17 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG1 30 31 33
  • 49.62 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15224g 30
  • 49.18 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL141C 30
  • 45.93 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons XF1 30
  • 50.72 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9714 30
Rice
(Oryza sativa)
Liliopsida Os03g0231700 30
  • 51.91 (n)
Os.20969 30
Wheat
(Triticum aestivum)
Liliopsida Ta.7591 30
Corn
(Zea mays)
Liliopsida Zm.7407 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg1 30
  • 50.04 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08280 30
  • 47.52 (n)
Species where no ortholog for SQLE was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Worm (Caenorhabditis elegans)

Evolution for SQLE Gene

ENSEMBL:
Gene Tree for SQLE (if available)
TreeFam:
Gene Tree for SQLE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SQLE: view image

Paralogs for SQLE Gene

(2) SIMAP similar genes for SQLE Gene using alignment to 4 proteins:

  • ERG1_HUMAN
  • E5RJH9_HUMAN
  • E7EVQ6_HUMAN
  • H0YBN7_HUMAN
genes like me logo Genes that share paralogs with SQLE: view

No data available for Paralogs for SQLE Gene

Variants for SQLE Gene

Additional dbSNP identifiers (rs#s) for SQLE Gene

Structural Variations from Database of Genomic Variants (DGV) for SQLE Gene

Variant ID Type Subtype PubMed ID
esv3342637 CNV insertion 20981092
nsv1132169 CNV deletion 24896259

Variation tolerance for SQLE Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SQLE Gene

Human Gene Mutation Database (HGMD)
SQLE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SQLE

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SQLE Gene

Disorders for SQLE Gene

MalaCards: The human disease database

(12) MalaCards diseases for SQLE Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tinea corporis
  • dermatophytosis of the body
tinea cruris
  • dermatophytosis of groin & perianal area
tinea pedis
  • athlete's foot
dermatophytosis
  • tinea
tinea unguium
  • cellulitis and abscess
- elite association - COSMIC cancer census association via MalaCards
Search SQLE in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SQLE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SQLE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SQLE Gene

Publications for SQLE Gene

  1. Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1. (PMID: 9286711) Nagai M … Ono T (Genomics 1997) 2 3 4 23
  2. Cloning, heterologous expression, and enzymological characterization of human squalene monooxygenase. (PMID: 10666321) Laden BP … Porter TD (Archives of biochemistry and biophysics 2000) 3 4 23
  3. Transcriptional regulation of squalene epoxidase by sterols and inhibitors in HeLa cells. (PMID: 8626488) Nakamura Y … Ono T (The Journal of biological chemistry 1996) 3 4 23
  4. Structure and inhibition mechanism of the catalytic domain of human squalene epoxidase. (PMID: 30626872) Padyana AK … Smolen GA (Nature communications 2019) 3 4
  5. The cancer-associated microprotein CASIMO1 controls cell proliferation and interacts with squalene epoxidase modulating lipid droplet formation. (PMID: 29765154) Polycarpou-Schwarz M … Diederichs S (Oncogene 2018) 3 4

Products for SQLE Gene

Sources for SQLE Gene